Citations 1
Defect in Dimethylglycine Dehydrogenase, a New Inborn Error of Metabolism: NMR Spectroscopy Study
Moolenaar, Sytske H., Poggi-Bach, Jo, Engelke, Udo F. H. , Corstiaensen, Jacqueline MB, Jong, Jan GN de, Binzak, Barbara A., Heerschap, Arend , Jong, Jan G.N. de, Vockley, Jerry , Wevers, Ron A.
Clinical Chemistry | January 23, 2020 | Volume: 45 | Issue: 4 | Pages: 459-464
AbstractBackground: A38-year-old man presented with a history of fish odor (since age 5) and unusual muscle fatigue with increased serum creatine kinase. Our aim was to identify the metabolic error in this new condition.Methods: We used 1H NMR spectroscopy to study serum and urine from the patient.Results: The concentration of N,N-dimethylglycine (DMG) was increased ∼100-fold in the serum and ∼20-fold in the urine. The presence of DMG as a storage product was confirmed by use of 13C NMR spectroscopy and gas chromatography–mass spectrometry. The high concentration of DMG was caused by a deficiency of the enzyme dimethylglycine dehydrogenase (DMGDH). A homozygous missense mutation was found in the DMGDH gene of the patient.Conclusions: DMGDH deficiency must be added to the differential diagnosis of patients complaining of a fish odor. This deficiency is the first inborn error of metabolism discovered by use of in vitro 1H NMR spectroscopy of body fluids.